Test Id : TFE3F
Alveolar Soft Part Sarcoma (ASPS)/Renal Cell Carcinoma (RCC), Xp11.23 (TFE3), FISH, Tissue
Useful For
Suggests clinical disorders or settings where the test may be helpful
An aid in the diagnosis of alveolar soft-part sarcoma or renal cell carcinoma variant when used in conjunction with an anatomic pathology consultation
Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.
| Test Id | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| _I099 | Interphases, 25-99 | No, (Bill Only) | No |
| _I300 | Interphases, >=100 | No, (Bill Only) | No |
| _IL25 | Interphases, <25 | No, (Bill Only) | No |
| _PADD | Probe, +1 | No, (Bill Only) | No |
| _PB02 | Probe, +2 | No, (Bill Only) | No |
| _PB03 | Probe, +3 | No, (Bill Only) | No |
| _PBCT | Probe, +2 | No, (Bill Only) | No |
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
When a TFE3 rearrangement is identified, reflex testing using the TFE3/ASPSCR1 probe will be performed.
This test does not include a pathology consultation. If a pathology consultation is requested, PATHC / Pathology Consultation should be ordered, and the appropriate fluorescence in situ hybridization (FISH) test will be performed at an additional charge.
This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.
Method Name
A short description of the method used to perform the test
Fluorescence In Situ Hybridization (FISH)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
ASPL
ASPSCR1
Papillary renal cell carcinoma
RCC
RCC17
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
When a TFE3 rearrangement is identified, reflex testing using the TFE3/ASPSCR1 probe will be performed.
This test does not include a pathology consultation. If a pathology consultation is requested, PATHC / Pathology Consultation should be ordered, and the appropriate fluorescence in situ hybridization (FISH) test will be performed at an additional charge.
This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.
Specimen Type
Describes the specimen type validated for testing
Tissue
Necessary Information
1. A pathology report is required in order for testing to be performed. Acceptable pathology reports include working drafts, preliminary pathology or surgical pathology reports.
2. A reason for testing must be provided. If this information is not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.
ORDER QUESTIONS AND ANSWERS
| Question ID | Description | Answers |
|---|---|---|
| CG737 | Reason for Referral |
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Submit only 1 of the following specimens:
Specimen Type: Tissue
Preferred: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded (FFPE) tumor tissue block. Blocks prepared with alternative fixation methods may be acceptable; provide fixation method used.
Acceptable: Slides
Collection Instructions: Four consecutive, unstained, 5 micron-thick sections placed on positively charged slides, and 1 hematoxylin and eosin-stained slide.
Forms
If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
Two consecutive, unstained, 5 micron-thick sections placed on positively charged slides and 1 hematoxylin and eosin-stained slide
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Tissue | Ambient (preferred) | ||
| Refrigerated | |||
Useful For
Suggests clinical disorders or settings where the test may be helpful
An aid in the diagnosis of alveolar soft-part sarcoma or renal cell carcinoma variant when used in conjunction with an anatomic pathology consultation
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
When a TFE3 rearrangement is identified, reflex testing using the TFE3/ASPSCR1 probe will be performed.
This test does not include a pathology consultation. If a pathology consultation is requested, PATHC / Pathology Consultation should be ordered, and the appropriate fluorescence in situ hybridization (FISH) test will be performed at an additional charge.
This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Alveolar soft-part sarcoma (ASPS) is a rare malignant tumor typically occurring in patients in their 20s to 30s within the muscle and deep tissues of the extremities. ASPS is slow growing and refractory to chemotherapy with a propensity to metastasize. Prolonged survival is possible even with metastasis, although the long-term disease-related mortality rate is high. ASPS is characterized by a translocation that results in fusion of TFE3 on chromosome Xp11.2 with ASPSCR1 (also called ASPL or RCC17) on chromosome 17q25.3. Both balanced and unbalanced forms (loss of the derivative X chromosome) of the translocation have been observed.
Another tumor, a rare subset of papillary renal cell carcinoma (RCC) with a distinctive pathologic morphology, has rearrangements of TFE3 with ASPSCR1 or other fusion partner genes. This tumor predominantly affects children and young adults, presents at an advanced stage but with an indolent clinical course, and is a distinct entity in the World Health Organization classification. Typically a balanced form of the translocation is present in the RCC variant. An assay to detect rearrangement of TFE3 is useful to resolve diagnostic uncertainty in these tumor types, as immunohistochemistry for TFE3 is not reliable.
Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Interpretation
Provides information to assist in interpretation of the test results
A neoplastic clone is detected when the percent of nuclei with the abnormality exceeds the established normal cutoff for the TFE3 probe set.
A positive result of TFE3 rearrangement is consistent with a diagnosis of alveolar soft-part sarcoma (ASPS) or renal cell carcinoma (RCC) variant.
A negative result suggests that TFE3 is not rearranged, but does not exclude the diagnosis of ASPS or RCC variant.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
This test is not approved by the U.S. Food and Drug Administration and it is best used as an adjunct to existing clinical and pathologic information.
Fixatives other than formalin (eg, Prefer, Bouin's) may not be successful for FISH assays, however non-formalin fixed samples will not be rejected.
Paraffin-embedded tissues that have been decalcified are generally unsuccessful for FISH analysis. The pathologist reviewing the hematoxylin and eosin-stained slide may find it necessary to cancel testing.
Supportive Data
FISH analysis was performed on 71 formalin fixed, paraffin-embedded specimens. These included 12 tumor samples (10 alveolar soft-part sarcoma [ASPS] and 2 renal cell carcinoma [RCC variant]), 9 tumors in the differential diagnosis, and 25 noncancerous control specimens from each sex (50 total). The normal controls were used to generate a normal cutoff for this assay. Of the 10 ASPS cases, 4 did not have a rearrangement, 2 had a balanced TFE3 separation, and 4 had an atypical TFE3 separation (presence of 2 normal X chromosomes and the derivative 17, but loss of the derivative X). This atypical rearrangement was confirmed using a TFE3/ASPSCR1 probe set. Of the 2 diagnostic RCC cases, 1 was normal and 1 had an atypical TFE3 separation, but reflex testing with the TFE3/ASPSCR1 probe was not possible due to insufficient sample.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Zhong M, De Angelo P, Osborne L, et al: Dual-color break-apart FISH assay on paraffin-embedded tissues as an adjunct to diagnosis of Xp11 translocation renal cell carcinoma and alveolar soft part sarcoma. Am J Surg Pathol 2010;34(6):757-766
2. Ladanyi M, Lui MY, Antonescu CR, et al: The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. Oncogene 2001;20:48-57
3. Ross H, Argani P: Xp11 translocation renal cell carcinoma. Pathology 2010;42(4):369-373
Method Description
Describes how the test is performed and provides a method-specific reference
The test is performed using a laboratory-developed TFE3 tri-color break-apart strategy probe (BAP). Reflex testing using a TFE3/ASPSCR1 dual-color, dual-fusion (D-FISH) strategy probe set is performed when atypical TFE3 separation is detected. Formalin fixed paraffin-embedded tissues are cut at 5 microns and mounted on positively charged glass slides. The selection of tissue and the identification of target areas on the hematoxylin and eosin (H and E)-stained slide are performed by a pathologist. Using the H and E-stained slide as a reference, target areas are etched with a diamond-tipped etcher on the back of the unstained slide to be assayed. Each probe set is hybridized to the appropriate target area and 2 technologists each analyze 50 interphase nuclei (100 total for each probe set) with the results expressed as the percent of abnormal nuclei.(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Monday through Friday
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.
CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
88271x2, 88291-DNA probe, each (first probe set), Interpretation and report
88271x2-DNA probe, each; each additional probe set (if appropriate)
88271x1-DNA probe, each; coverage for sets containing 3 probes (if appropriate)
88271x2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)
88271x3-DNA probe, each; coverage for sets containing 5 probes (if appropriate)
88274 w/modifier 52-Interphase in situ hybridization, <25 cells, each probe set (if appropriate)
88274-Interphase in situ hybridization, 25 to 99 cells, each probe set (if appropriate)
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| TFE3F | TFE3 (Xp11.23), FISH, Ts | 95779-5 |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| 52091 | Result Summary | 50397-9 |
| 52093 | Interpretation | 69965-2 |
| 54577 | Result | 35474-6 |
| CG737 | Reason For Referral | 42349-1 |
| 52094 | Specimen | 31208-2 |
| 52095 | Source | 31208-2 |
| 52096 | Tissue ID | 80398-1 |
| 52097 | Method | 85069-3 |
| 52098 | Released By | 18771-6 |
| 55122 | Additional Information | 48767-8 |
| 53838 | Disclaimer | 62364-5 |